Indicators on login thr777 You Should Know
Indicators on login thr777 You Should Know
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This sequence improve has an effect on codon 777 on the GAA mRNA. It's really a 'silent' modify, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Section of the consensus splice internet site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people affected with GAA-similar ailments.
The distributing Corporation for this submitted (SCV) file. This column also includes the SCV accession and Edition selection, the date this SCV 1st appeared in ClinVar, and the date that this SCV was previous updated in ClinVar.
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There is no useful proof in ClinVar for this variation. Should you have generated functional knowledge for this variation, you should take into consideration publishing that details to ClinVar.
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These citations are determined by LitVar using the rs number, so They could involve citations for multiple variant at this spot. Remember to assessment the LitVar final results very carefully on your variant of curiosity. Record past up-to-date May possibly twelve, 2024
Stars depict the overview status, or the extent of critique supporting the submitted (SCV) record. This price is calculated by NCBI based on facts from the submitter.
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